Imaging test may detect gene for genetic cardiac disease

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New tissue imaging test may allow for earlier diagnosis

Hypertrophic cardiomyopathy (HCM) is the most common cause of cardiac death among young people and affects one in every 500 individuals, including professional athletes. It is characterized by an enlargement of the left ventricle, the heart’s main pumping chamber. This enlargement results in a thickening of the walls of the heart, which then prevents the heart from functioning properly. Researchers used a relatively new imaging technique called Doppler tissue imaging (DTI), a real-time noninvasive ultrasound procedure that shows how fast the heart muscle moves during contraction and relaxation. They found that individuals who had HCM tended to have lower velocities during the relaxation phase of the cardiac cycle. “Thickened hearts indicate HCM, but not all individuals will develop this thickening. We wanted to find a way to diagnose the disorder earlier in the disease process,” said lead author Scott Solomon, director of noninvasive cardiology at Brigham and Women’s Hospital and assistant professor of medicine at Harvard Medical School.